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NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 12, 2016)
Last evaluated:
Jun 10, 2014
Accession:
VCV000374137.1
Variation ID:
374137
Description:
single nucleotide variant
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NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)

Allele ID
360883
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7575386 (GRCh38) GRCh38 UCSC
6: 7575619 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.7575619C>A
NC_000006.12:g.7575386C>A
NM_004415.4:c.2528C>A MANE Select NP_004406.2:p.Ser843Ter nonsense
... more HGVS
Protein change
S843*
Other names
-
Canonical SPDI
NC_000006.12:7575385:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16043421
dbSNP: rs1057518920
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 10, 2014 RCV000415085.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSP Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2583 2627

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 10, 2014)
criteria provided, single submitter
Method: clinical testing
Aortic dilatation
Arrhythmia
Bicuspid aortic valve
Sudden cardiac death
Ventricular fibrillation
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000492925.1
Submitted: (Nov 12, 2016)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1057518920...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Feb 19, 2021